Full data view for gene ATXN1

Information The variants shown are described using the NM_000332.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - ? 11973625-PatC PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - ? 11973626-PatD PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - M no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - ? 11973627-PatE PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - ? 11973628-PatF PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - M no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - ? 11973629-PatG PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - ? 11973630-PatH PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - SCA1 11973633-PatL PubMed: Zuhlke 2002, Journal: Zuhlke 2002 patient Fam1PatII2 M no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - SCA1 11973634-PatM PubMed: Zuhlke 2002, Journal: Zuhlke 2002 patient Fam1PatI1 M no Germany - - - - - 3 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - SCA1 11973635-PatN PubMed: Zuhlke 2002, Journal: Zuhlke 2002 patient Fam1PatII1 F no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - SCA1 11973636-PatO PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - M no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - SCA1 11973638-PatQ PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - - - - 1 Johan den Dunnen
-?/. 8 c.675_677dup TRN[30] 12-1-15 r.(?) p.(Gln225dup) Parent #1 - benign g.16327906_16327908dup g.16327675_16327677dup 591_677[30] - ATXN1_000004 - PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - - Germline - - - - - DNA PCR, SEQ - - SCA1 11973639-PatR PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - - - - 1 Johan den Dunnen
-?/. - c.675_677dup - r.(?) p.(Gln225dup) Unknown - likely benign g.16327906_16327908dup g.16327675_16327677dup ATXN1(NM_000332.3):c.672_674dup (p.(Gln225dup)), ATXN1(NM_000332.3):c.675_677dupGCA (p.Q225dup), ATXN1(NM_000332.4):c.675_677dupGCA (p.Q225dup) - ATXN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675_677dup - r.(?) p.(Gln225dup) Unknown - likely benign g.16327906_16327908dup g.16327675_16327677dup ATXN1(NM_000332.3):c.672_674dup (p.(Gln225dup)), ATXN1(NM_000332.3):c.675_677dupGCA (p.Q225dup), ATXN1(NM_000332.4):c.675_677dupGCA (p.Q225dup) - ATXN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.675_677dup - r.(?) p.(Gln225dup) Unknown - benign g.16327906_16327908dup g.16327675_16327677dup ATXN1(NM_000332.3):c.672_674dup (p.(Gln225dup)), ATXN1(NM_000332.3):c.675_677dupGCA (p.Q225dup), ATXN1(NM_000332.4):c.675_677dupGCA (p.Q225dup) - ATXN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675_677dup - r.(?) p.(Gln225dup) Unknown - likely benign g.16327906_16327908dup g.16327675_16327677dup ATXN1(NM_000332.3):c.672_674dup (p.(Gln225dup)), ATXN1(NM_000332.3):c.675_677dupGCA (p.Q225dup), ATXN1(NM_000332.4):c.675_677dupGCA (p.Q225dup) - ATXN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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